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Peer-reviewed · Gigabyte · 2024

Low-coverage whole genome sequencing for a highly selective cohort of severe COVID-19 patients

This study explored imputation in low-coverage whole genome sequencing for severe COVID-19 patients. The authors imputed 79 genomes with GLIMPSE1 and found high accuracy (squared Pearson correlation ≍0.97) across sequencing platforms, confidently imputing variants with minor allele frequencies as low as 2% in individuals with Spanish ancestry.

Santos et al.

This study explored imputation in low-coverage whole genome sequencing for severe COVID-19 patients. The authors imputed 79 genomes with GLIMPSE1 and found high accuracy (squared Pearson correlation ≍0.97) across sequencing platforms, confidently imputing variants with minor allele frequencies as low as 2% in individuals with Spanish ancestry.

Dante Labs’ involvement

Dante Labs sequenced the IBS001 validation sample used in this study — a healthy IBS genome, independent of the patient cohort — at 40× coverage, using an Illumina system, at our Cambridge, United Kingdom facility. The research team used this dataset, alongside a second IBS001 dataset generated on an MGI system at BGI Tech Solutions Hongkong Co Ltd (Tai Po, Hong Kong), to validate the imputed dataset and to test whether imputation accuracy is affected by the choice of short-read sequencing platform.

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